Varaico: Literature-Extracted Genetic Variants

GABRG2

349 papers

RefSeq Summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride cha...

Pfam Domains

Neur_chan_LBDaa 44–250UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_LBDaa 66–220UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 257–447UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 348–439UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit gamma2

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, gamma 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198904.4

p.L313R

c.938T>G

Surrounding Variants

2 papers

NM_198904.4

p.L313M

c.937C>A

1 paper

NM_198904.4

p.L313V

c.937C>G

4 papers

NM_198904.4

p.L313delins

c.937_938delinsGG

1 paper

NM_198904.4

p.T314P

c.940A>C

2 papers

NM_198904.4

p.T314S

c.940A>T

2 papers

NM_198904.4

p.T314K

c.941C>A

1 paper

NM_198904.4

p.V312D

c.935T>A

1 paper

NM_198904.4

p.V312I

c.934G>A

2 papers

NM_198904.4

p.T311I

c.932C>T

2 papers

NM_198904.4

p.M315T

c.944T>C

2 papers

NM_198904.4

p.T311A

c.931A>G

1 paper

NM_198904.4

p.T316S

c.946A>T